Mutagenetix > Incidental Mutations

Incidental Mutation 'R5939:Tmc7'

462429

Institutional Source

Beutler Lab

Gene Symbol

Tmc7

Ensembl Gene

ENSMUSG00000042246

Gene Name

transmembrane channel-like gene family 7

Synonyms

MMRRC Submission

043243-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5939 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118535841-118584736 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 118545727 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 537 (A537T)

Ref Sequence

ENSEMBL: ENSMUSP00000046927 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044195]

Predicted Effect

probably benign
Transcript: ENSMUST00000044195
AA Change: A537T

PolyPhen 2 Score 0.327 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000046927
Gene: ENSMUSG00000042246
AA Change: A537T

Domain	Start	End	E-Value	Type
transmembrane domain	167	189	N/A	INTRINSIC
transmembrane domain	216	238	N/A	INTRINSIC
transmembrane domain	258	280	N/A	INTRINSIC
transmembrane domain	360	382	N/A	INTRINSIC
transmembrane domain	402	424	N/A	INTRINSIC
Pfam:TMC	484	595	5.2e-51	PFAM
transmembrane domain	599	621	N/A	INTRINSIC
transmembrane domain	664	686	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153635

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	A	T	8: 24,914,122	F225I	probably damaging	Het
Ager	G	T	17: 34,598,201	C38F	probably damaging	Het
Arel1	C	A	12: 84,926,292	R577L	probably damaging	Het
Armh1	T	C	4: 117,229,922	Y182C	probably damaging	Het
BC005561	T	C	5: 104,519,207	Y532H	possibly damaging	Het
Cabp2	G	T	19: 4,086,470	C172F	possibly damaging	Het
Cenps	C	A	4: 149,130,201		probably benign	Het
D630045J12Rik	A	C	6: 38,194,969	S755A	possibly damaging	Het
Duox1	A	T	2: 122,346,351	H1451L	probably damaging	Het
Dync2h1	A	G	9: 7,037,801	V3359A	probably damaging	Het
Erlin2	T	C	8: 27,036,526	F305L	probably benign	Het
Gm10428	A	C	11: 62,753,462		probably benign	Het
Gnal	G	A	18: 67,191,385	V204M	probably damaging	Het
Intu	T	C	3: 40,692,584	V629A	probably damaging	Het
Lrguk	G	T	6: 34,078,753	C435F	probably damaging	Het
Man1c1	C	T	4: 134,565,836	V543M	probably damaging	Het
Mcm3ap	A	G	10: 76,508,361	H1779R	probably benign	Het
Neb	T	C	2: 52,257,594	T2776A	probably benign	Het
Nek10	A	T	14: 14,931,290	Y754F	possibly damaging	Het
Nr3c1	A	G	18: 39,420,653	I664T	probably benign	Het
Nrip1	T	C	16: 76,292,122	E849G	probably damaging	Het
Nrros	A	G	16: 32,143,454	F546L	probably benign	Het
Olfr1120	A	C	2: 87,357,704	I87L	possibly damaging	Het
Olfr1167	T	C	2: 88,149,509	Y170C	probably damaging	Het
Pcdhb16	A	G	18: 37,478,064	T26A	probably benign	Het
Penk	A	G	4: 4,138,010	F45S	probably benign	Het
Ppp2r3a	A	T	9: 101,212,625	N166K	probably benign	Het
Psmb1	A	G	17: 15,498,178	F29L	probably damaging	Het
Rab23	T	C	1: 33,723,909	V20A	probably damaging	Het
Ryr1	C	T	7: 29,116,127	A113T	probably damaging	Het
Ryr2	C	T	13: 11,790,332	R882K	probably damaging	Het
Slc6a6	A	G	6: 91,754,948	N586S	probably benign	Het
Slc9c1	A	G	16: 45,547,668	I207V	probably benign	Het
Spef2	G	A	15: 9,614,215	T1215I	probably benign	Het
Tmem246	T	A	4: 49,586,412	Q252L	probably damaging	Het
Tmem70	T	C	1: 16,677,391	V243A	probably benign	Het
Top2b	T	C	14: 16,422,786	Y1408H	probably damaging	Het
Tpcn1	A	T	5: 120,539,827	F642I	probably damaging	Het
Xirp1	T	G	9: 120,018,509	D436A	probably benign	Het

Other mutations in Tmc7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01431:Tmc7	APN	7	118552762	missense	probably damaging	1.00
IGL01456:Tmc7	APN	7	118547310	splice site	probably benign
IGL01784:Tmc7	APN	7	118547315	critical splice donor site	probably null
IGL02158:Tmc7	APN	7	118538211	missense	probably damaging	1.00
PIT4403001:Tmc7	UTSW	7	118547400	missense	probably benign	0.04
PIT4403001:Tmc7	UTSW	7	118547401	missense	possibly damaging	0.86
PIT4696001:Tmc7	UTSW	7	118564343	missense	probably benign	0.04
R1164:Tmc7	UTSW	7	118542024	missense	probably benign	0.01
R1169:Tmc7	UTSW	7	118551260	missense	probably benign	0.00
R1170:Tmc7	UTSW	7	118551260	missense	probably benign	0.00
R1420:Tmc7	UTSW	7	118566217	nonsense	probably null
R1885:Tmc7	UTSW	7	118561087	missense	possibly damaging	0.95
R1886:Tmc7	UTSW	7	118561087	missense	possibly damaging	0.95
R1887:Tmc7	UTSW	7	118561087	missense	possibly damaging	0.95
R1923:Tmc7	UTSW	7	118545627	missense	probably benign	0.08
R2220:Tmc7	UTSW	7	118552816	missense	possibly damaging	0.87
R4858:Tmc7	UTSW	7	118543342	missense	probably damaging	1.00
R5000:Tmc7	UTSW	7	118558854	critical splice donor site	probably null
R5038:Tmc7	UTSW	7	118543365	missense	probably damaging	1.00
R5075:Tmc7	UTSW	7	118552696	critical splice donor site	probably null
R5272:Tmc7	UTSW	7	118561053	missense	probably benign
R5691:Tmc7	UTSW	7	118541893	missense	probably benign
R5800:Tmc7	UTSW	7	118539440	missense	probably benign
R5889:Tmc7	UTSW	7	118566326	missense	probably benign	0.00
R6251:Tmc7	UTSW	7	118561038	missense	possibly damaging	0.83
R6642:Tmc7	UTSW	7	118545611	nonsense	probably null
R6644:Tmc7	UTSW	7	118538162	missense	probably benign
R6814:Tmc7	UTSW	7	118547623	missense	probably benign	0.07
R6872:Tmc7	UTSW	7	118547623	missense	probably benign	0.07
R6967:Tmc7	UTSW	7	118547678	missense	probably benign	0.00
R7165:Tmc7	UTSW	7	118555934	missense	probably benign	0.00
R7492:Tmc7	UTSW	7	118541966	missense	probably benign	0.00
R7543:Tmc7	UTSW	7	118545756	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TTCCTGTCCACAGCACAGC -3'
(R):5'- CTGCGTGCACAACCATGT -3'

Sequencing Primer
(F):5'- CAGCAAAAACCGGAGCTATAG -3'
(R):5'- TGCACAACCATGTACACACTC -3'

Posted On

2017-02-28